EEC syndrome(Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract.[1][2] EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.[3] Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.[3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have
all the symptoms listed. This information comes from a database called the Human Phenotype Ontology
(HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO
is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3).[4][3]

In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1).[3]

Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7.[2]

EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child.[3]

EEC syndrome additionally shows reduced penetrance and variable expressivity.[3]Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition.[3][2]Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).

It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7.

Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here.

Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known.

Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. EEC syndrome 1EEC syndrome 3

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss EEC syndrome. Click on the link to view a sample search on this topic.

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I met someone whose mother and brother have this disorder but she does not. Would it be necessary for her to have genetic testing to see if she is a carrier? Is it possible that she could have children without this disorder?
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